Table 3.

Illustration of Automated Interpretation of Pathogenic and Benign Variants Annotated in ClinVar

InterVar (Automated Interpretation)	ClinVar
	Pathogenic or Likely Pathogenic	Benign or Likely Benign
Benign	65 (0.4%)	1,505 (24.8%)
Likely benign	448 (3.0%)	3,393 (55.9%)
Uncertain significance	12,207 (82.6%)	1,173 (19.3%)
Likely pathogenic	2,058 (13.9%)	0 (0%)
Pathogenic	0 (0%)	0 (0%)
Sum of five tiers	14,778	6,071
Benign and likely benign	513 (3.5%)	4,898 (80.6%)
Pathogenic and likely pathogenic	2,058 (13.9%)	0 (0%)